FGF20 p.Arg89=
c.267G>C · rs1258624500 · VCV3033970
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,577,774)
Conditions
1
FGF20-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.077 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -3.7, phastCons 1 |
| Overall | ||
| CADD | 12.72 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,577,774). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- FGF20
- Protein
- p.Arg89=
- Coding
- c.267G>C
- MANE Select
- NM_019851
- dbSNP
- rs1258624500
- Type
- single nucleotide variant
- Location
- chr8:17001766 (GRCh38)
- Gene constraint
- LOEUF 1.145 · pLI 0.09 (gnomAD)
- Structure
- AlphaFold pLDDT 83.52 · 1 PDB
- Residue 89
- a β-strand
Disease context
FGF20-related disorder
Similar variants
- FGF20 p.Arg89Gln Uncertain significance ★ ⚠ same residue
- FGF20 p.Arg89Trp Uncertain significance ★ ⚠ same residue
- FGF20 p.Arg65= Likely benign same condition
- FGF20 p.Asp82Asn Likely benign ⚠ same condition
- FGF20 p.Gln78Glu Likely benign same condition
- FGF20 p.Gly178= Likely benign same condition
- FGF20 p.Gly62= Likely benign same condition
- FGF20 p.Gly87= Likely benign same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/fgf20-p-arg89 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown